Severe infantile congenital myopathy with nemaline and cytoplasmic bodies: A case report

Brain and Development

Volumn 20, Issue 2, 1998, Pages 112-115

  Itakura, Yukino ^a   Ogawa, Yunosuke ^a   Murakami, Nobuyuki ^b   Nonaka, Ikuya ^b  

^a SAITAMA MEDICAL UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

Congenital myopathy; Cytoplasmic body; Nemaline body; Severe infantile form

Indexed keywords

ARTICLE; BICEPS BRACHII MUSCLE; CASE REPORT; CELL INCLUSION; CLINICAL FEATURE; DISEASE SEVERITY; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NEMALINE MYOPATHY; NEWBORN; RESPIRATORY FAILURE;

BIOPSY; CYTOPLASMIC GRANULES; DISEASES IN TWINS; HUMANS; INFANT; MALE; MUSCLE FIBERS; MUSCLE, SKELETAL; MYOPATHIES, NEMALINE;

EID: 0031934334     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(97)00100-9     Document Type: Article

References (12)

1. Shy GM, Engel WK, Somers JE, Wanko T. Nemaline myopathy: a new congenital myopathy. Brain 1963;86:793-810.
2. Shafiq SA, Dubowitz V, Peterson HC, Milhorat AT. Nemaline myopathy: report of a fetal case, with histochemical and electron microscopic studies. Brain 1967;90:817-828.
3. Nonaka I, Tojo M, Sugita H. Fetal muscle characteristics in nemaline myopathy. Neuropediatrics 1983;14:47-52.
4. Norton P, Ellison P, Sulaiman AR, Harb J. Nemaline myopathy in the neonate. Neurology 1983;33:351-356.
5. Rifai Z, Kazee AM, Kamp C, Griggs RC. Intranuclear rods in severe congenital nemaline myopathy. Neurology 1993;43:2372-2377.
6. Akiyama C, Sakuta R, Matsuoka T, Nonaka I. The significance of cytoplasmic body in neuromuscular diseases (in Japanese). Clin Neurol (Tokyo) 1993;33:278-281.
7. Martinez BA, Lake BD. Childhood nemaline myopathy: a review of clinical presentation in relation to prognosis. Dev Med Child Neurol 1987;29:815-820.
8. Tojo M, Sakuragawa N, Sugai K, Maeda K, Nonaka I. A survival child of severe nemaline myopathy (in Japanese). Neurol Med (Tokyo) 1989;30:53-60.
9. Nakashima N, Tamura Z, Okamoto S, Goto H. Inclusion bodies in human neuromuscular disorder. Arch Neurol 1970;22:270-278.
10. Bertini E, Ricci E, Boldrini R, et al. Involvement of respiratory muscles in cytoplasmic body myopathy - a pathological study. Brain Dev 1990;12:798-806.
11. Mizuno Y, Nakamura Y, Komiya K. The spectrum of cytoplasmic body myopathy: report of a congenital severe case. Brain Dev 1989;11:20-25.
12. Fukuhara N, Inoue Y, Yoshimura N, Sugita H, Ii K. Histochemical, immunohistochemical and electron microscopic study on cytoplasmic body (in Japanese). Clin Neurol (Tokyo) 1987;27:1713.